Incidental Mutation 'IGL01553:Cenpp'
| ID |
90644 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cenpp
|
| Ensembl Gene |
ENSMUSG00000021391 |
| Gene Name |
centromere protein P |
| Synonyms |
1700022C02Rik, 4921518G09Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.315)
|
| Stock # |
IGL01553
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
49617499-49806261 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 49618252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 218
(V218M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021818
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021817]
[ENSMUST00000021818]
[ENSMUST00000220447]
[ENSMUST00000220856]
|
| AlphaFold |
Q9CZ92 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021817
|
| SMART Domains |
Protein: ENSMUSP00000021817
Gene: ENSMUSG00000021385
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ins_P5_2-kin
|
13 |
455 |
1.9e-96 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021818
AA Change: V218M
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021818
Gene: ENSMUSG00000021391
AA Change: V218M
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
34 |
N/A |
INTRINSIC |
|
Pfam:CENP-P
|
102 |
278 |
3.9e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220447
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220856
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CENPP is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c13 |
T |
A |
13: 4,244,774 (GRCm39) |
H117Q |
probably damaging |
Het |
| Arhgap44 |
T |
C |
11: 64,943,944 (GRCm39) |
N188S |
probably damaging |
Het |
| Bach1 |
T |
A |
16: 87,519,393 (GRCm39) |
I561N |
probably damaging |
Het |
| Bsph2 |
G |
T |
7: 13,290,645 (GRCm39) |
T78K |
probably damaging |
Het |
| Ccdc178 |
A |
G |
18: 22,048,063 (GRCm39) |
Y776H |
probably damaging |
Het |
| Ccdc7a |
T |
C |
8: 129,753,072 (GRCm39) |
|
probably benign |
Het |
| Dnmt3l |
A |
G |
10: 77,899,082 (GRCm39) |
S94G |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,833,803 (GRCm39) |
Y1839* |
probably null |
Het |
| Gabra6 |
T |
A |
11: 42,206,023 (GRCm39) |
T278S |
probably damaging |
Het |
| Galnt11 |
G |
A |
5: 25,452,718 (GRCm39) |
D77N |
probably benign |
Het |
| Gm17175 |
T |
C |
14: 51,808,279 (GRCm39) |
D171G |
probably benign |
Het |
| Iqch |
T |
C |
9: 63,408,199 (GRCm39) |
N655S |
probably benign |
Het |
| Kdm1b |
T |
A |
13: 47,234,024 (GRCm39) |
I786N |
probably damaging |
Het |
| Macf1 |
G |
A |
4: 123,386,956 (GRCm39) |
Q976* |
probably null |
Het |
| Mbtd1 |
T |
A |
11: 93,814,040 (GRCm39) |
C228S |
probably benign |
Het |
| Myo10 |
T |
C |
15: 25,776,415 (GRCm39) |
L46P |
probably damaging |
Het |
| Niban3 |
G |
T |
8: 72,055,546 (GRCm39) |
A319S |
possibly damaging |
Het |
| Nup133 |
A |
G |
8: 124,642,063 (GRCm39) |
V800A |
possibly damaging |
Het |
| Or5h23 |
G |
T |
16: 58,906,685 (GRCm39) |
H54N |
probably benign |
Het |
| Prkca |
C |
T |
11: 107,948,660 (GRCm39) |
G110R |
probably benign |
Het |
| Samd9l |
A |
T |
6: 3,375,566 (GRCm39) |
M565K |
probably damaging |
Het |
| Scgn |
T |
C |
13: 24,143,662 (GRCm39) |
Q77R |
probably benign |
Het |
| Serpinb6b |
T |
C |
13: 33,158,931 (GRCm39) |
L44P |
probably damaging |
Het |
| Tfrc |
T |
C |
16: 32,447,403 (GRCm39) |
V673A |
probably benign |
Het |
| Tsfm |
G |
A |
10: 126,864,259 (GRCm39) |
T152M |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,047,897 (GRCm39) |
C1803S |
probably benign |
Het |
|
| Other mutations in Cenpp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00419:Cenpp
|
APN |
13 |
49,801,132 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01323:Cenpp
|
APN |
13 |
49,801,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01397:Cenpp
|
APN |
13 |
49,794,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02489:Cenpp
|
APN |
13 |
49,803,594 (GRCm39) |
splice site |
probably null |
|
|
IGL03024:Cenpp
|
APN |
13 |
49,617,730 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0218:Cenpp
|
UTSW |
13 |
49,801,108 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0660:Cenpp
|
UTSW |
13 |
49,618,173 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1868:Cenpp
|
UTSW |
13 |
49,794,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4097:Cenpp
|
UTSW |
13 |
49,647,265 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4377:Cenpp
|
UTSW |
13 |
49,647,907 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4595:Cenpp
|
UTSW |
13 |
49,794,710 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5173:Cenpp
|
UTSW |
13 |
49,618,258 (GRCm39) |
frame shift |
probably null |
|
|
R5174:Cenpp
|
UTSW |
13 |
49,618,258 (GRCm39) |
frame shift |
probably null |
|
|
R5953:Cenpp
|
UTSW |
13 |
49,806,161 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7054:Cenpp
|
UTSW |
13 |
49,619,233 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8452:Cenpp
|
UTSW |
13 |
49,683,887 (GRCm39) |
splice site |
probably null |
|
|
R9602:Cenpp
|
UTSW |
13 |
49,801,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF023:Cenpp
|
UTSW |
13 |
49,803,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Cenpp
|
UTSW |
13 |
49,801,134 (GRCm39) |
splice site |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation